S37G (p.Ser37Gly) variant of KCNE1 (P15382)
S37G (p.Ser37Gly) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome 5; Jervell and Lange-Nielsen syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- rs886044294
- ClinGen CA10606580
- ClinVar RCV000383746
- ClinVar RCV001850457
- Uncertain significance
- not provided; Long QT syndrome 5; Jervell and Lange-Nielsen syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Long QT syndrome 5; Jervell and Lange-Nielsen synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.26
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)